A review of epidemiological studies about pulse wave velocity for prevention of cardiovascular disease

Early arteriosclerosis can be prevented by medication and life style changes. However, late cardiac disease, called cardiovascular disease, could be fatal or have severe sequelae. Therefore, it is important to develop a method for early diagnosis. Since no symptoms become evident until endothelial/vascular dysfunction, a simple and sensitive diagnostic method using a biological parameter needs to be developed for prevention and medical treatment. Pulse wave velocity (PWV) is a noninvasive and simple measure for evaluating arterial wall stiffness and several studies have indicated this is a good marker for vascular damage, although not all results were consistent. This review concerns the following three aspects: 1. PWV as a marker of vascular damage 2. PWV as a prognostic predictor 3. Brachial-ankle PWV (baPWV) Blood pressure is strongly related with PWV, along with BMI, fasting blood glucose, and cholesterol. However, no relation was rated cigarette smoking. While many reports have shown that rise of PWV can serve as a prognostic predictor of disease, the situation with baPWV remains unclear. It is to be expected that improvements in methods for PWV will greatly contribute to primary and secondary prevention in the future.     

Intradural jugular tuberclectomy in a case of inadequate extradural removal

BACKGROUND: The jugular tubercles are paired protuberances that arise from the inferolateral margins of the clivus and project posterosuperiorly over the hypoglossal canal. These bony structures sometimes obscure and hinder surgical manipulation of lesions situated in the lateral and premedullary cisterns during extended far lateral suboccipital approaches. The application of intradural jugular tuberclectomy is described to remove this bony eminence. METHODS: A case of ruptured dissecting aneurysm in the vertebral artery was treated through the transcondylar approach. Extradural removal of the posterior portion of the jugular tubercle was performed. The dura over the jugular tubercle was then removed, and the anterior part of the jugular tubercle was drilled away between the intradural hypoglossal canal foramen and jugular foramen under the lower cranial nerves. RESULTS: Great care was required during the intradural drilling procedure to prevent damage to the lower cranial nerves, brain stem, and jugular bulb. Intradural jugular tuberclectomy provided an adequate microscopic view of the midline anterior lower clival region. CONCLUSIONS: Intradural jugular tuberclectomy is a useful technique to remove the anterior part of this bony eminence after the transcondylar approach.     

MR features of angiosarcoma in a patient with Maffucci's syndrome

Maffucci's syndrome is a rare sporadic congenital disorder associated with multiple enchondromas and soft tissue hemangiomas. These bone and soft tissue tumors have the potential of malignant transformation to various histologic types: chondrosarcoma, osteosarcoma, fibrosarcoma, and angiosarcoma. We report a rare case of Maffucci's syndrome with soft tissue angiosarcoma of the leg to illustrate MRI findings with pathologic correlations.     

Extranodal Rosai-Dorfman disease: a solitary lesion with soft tissue reaction

We report a case of extranodal Rosai-Dorfman disease (RDD) (sinus histiocytosis with massive lymphadenopathy) presenting with a solitary active lesion of the femur.     

Extraskeletal osteosarcoma: Extensive tumor thrombus on fused PET-CT images

A 30-year-old woman developed extraskeletal osteosarcoma in the right buttock and thigh. Radiographs and unenhanced computed tomography (CT) showed a large, multilobulated mass accompanied by mineralized matrix. Contrast-enhanced CT and magnetic resonance (MR) images showed extensive tumor thrombus in the right internal- and external iliac veins. Co-registered positron emission tomography (PET) and CT images showed abnormal F-18 2-fluoro-2-deoxy-D-glucose (FDG) uptake in the tumor thrombus. PET study in our patient provided information concerning disease extent and viability of tumor thrombus.     

In vivo studies of phenylalanine hydroxylase by phenylalanine breath test: diagnosis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Tetrahydrobiopterin (BH4)-responsive phenylalanine hydroxylase (PAH) deficiency is characterized by reduction of blood phenylalanine level after a BH4-loading test. Most cases of BH4-responsive PAH deficiency include mild phenylketonuria (PKU) or mild hyperphenylalaninemia (HPA), but not all patients with mild PKU respond to BH4. We performed the phenylalanine breath test as reliable method to determine the BH4 responsiveness. Phenylalanine breath test quantitatively measures the conversion of L-[1-13C] phenylalanine to 13CO2 and is a noninvasive and rapid test. Twenty Japanese patients with HPA were examined with a dose of 10 mg/kg of 13C-phenylalanine with or without a dose of 10 mg . kg(-1) . d(-1) of BH4 for 3 d. The phenylalanine breath test [cumulative recovery rate (CRR)] could distinguish control subjects (15.4 +/- 1.5%); heterozygotes (10.3 +/- 1.0%); and mild HPA (2.74%), mild PKU (1.13 +/- 0.14%), and classical PKU patients (0.29 +/- 0.14%). The genotypes in mild PKU cases were compound heterozygotes with mild (L52S, R241C, R408Q) and severe mutations, whereas a mild HPA case was homozygote of R241C. CRR correlated inversely with pretreatment phenylalanine levels, indicating the gene dosage effects on PKU. BH4 loading increased CRR from 1.13 +/- 0.14 to 2.95 +/- 1.14% (2.6-fold) in mild PKU and from 2.74 to 7.22% (2.6-fold) in mild HPA. A CRR of 5 to 6% reflected maintenance of appropriate serum phenylalanine level. The phenylalanine breath test is useful for the diagnosis of BH4-responsive PAH deficiency and determination of the optimal dosage of BH4 without increasing blood phenylalanine level.